Canonical Allele Identifier: CA1064182251

Gene:

Linked Data

• dbSNP Id: rs1721061377
• gnomAD v3: 4-74554076-A-G
• gnomAD v4: 4-74554076-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554076A>G , CM000666.2:g.74554076A>G	GRCh38
NC_000004.11:g.75419793A>G , CM000666.1:g.75419793A>G	GRCh37
NC_000004.10:g.75638657A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1244T>C